Results 51 to 60 of about 116,502 (262)

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation

Case Reports in Hematology
According to the 2016 World Health Organization classification, a germline DEAD-box helicase 41 gene (DDX41) mutation with myeloid neoplasms has been newly classified. The clinical course of acute myeloid leukemia (AML) with a germline DDX41 mutation has
Shuro Yoshida, Yuichiro Semba, Shuichiro Takashima, Masanori Kadowaki, Ken Takase, Takahiro Maeda, Koichi Akashi, Hiromi Iwasaki   +7 more
doaj   +1 more source

A New Germline Stop Codon Mutation in Exon 15 of the Gene Predisposing to Familial Adenomatous Polyposis

The International Journal of Biological Markers, 2013
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder related to germline mutations of the adenomatous polyposis coli ( APC ) gene. It is characterized by the detection of numerous adenomatous polyps that, if untreated, develop into ...
Laura Schirosi, Marcello Pellegrino, Paolo Tarantino, Salvatore Mauro, Andrea Tinelli, Marilena Greco PhD   +5 more
doaj   +1 more source

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report

BMC Medical Genetics, 2018
Background Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing’s syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis.
Qiuli Liu, Dali Tong, Jing Xu, Xingxia Yang, Yuting Yi, Dianzheng Zhang, Luofu Wang, Jun Zhang, Yao Zhang, Yaoming Li, Lianpeng Chang, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang   +14 more
doaj   +1 more source

Mutation rates and the evolution of germline structure [PDF]

Philosophical Transactions of the Royal Society B: Biological Sciences, 2015
Abstract Genome sequencing studies of de novo mutations in humans have revealed surprising incongruities with our understanding of human germline mutation. In particular, the mutation rate observed in modern humans is substantially lower than that estimated from calibration against ...
openaire   +2 more sources

An Adipocyte MKK3–p38β Axis Preserves Insulin Responsiveness in Mice and Is Reciprocally Altered in Human Obesity

Advanced Science, EarlyView.
The adipocyte MKK3–p38β axis emerges as an adaptive stress‐response pathway during obesity. Human visceral adipose tissue analyses, adipocyte‐specific mouse models, and primary adipocytes show that the MKK3–p38β axis supports insulin responsiveness by restraining p70S6K‐dependent inhibitory IRS1 feedback and preserving AKT–GLUT4 signaling. This pathway
Edgar Bernardo, Nuria Matesanz, Jorge‐Luis Torres, Alba C. Arcones, Juan Ignacio Jiménez‐Loygorri, Alfonso Mora, Leticia Herrera‐Melle, Luis Leiva‐Vega, Maria Elena Rodriguez, Lourdes Hernández‐Cosido, Marta Leon, Paula Yong González, Teresa Durán, Tamara Parracho, Francisca Mulero, Rubén Nogueiras, J. Simon C. Arthur, Angel R. Nebreda, Roger J. Davis, Miguel Marcos, Guadalupe Sabio   +20 more
wiley   +1 more source

Pain correlates with germline mutation in schwannomatosis

Medicine, 2018
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain ...
Jordan, Justin, Cai, Wenli, Harris, Gordon, Bredella, Miriam, Gusella, James, Plotkin, Scott, Smith, Miriam J., Walker, James A., Erdin, Serkan, Talkowski, Michael E., Merker, Vanessa L., Ramesh, Vijaya, Seijo, Marlon, Suuberg, Alessandra   +13 more
openaire   +5 more sources

Somatic Evolution of a Germline Antibody Expands its Breadth to Neutralize Early SARS‐CoV‐2 Omicron Variants

Advanced Science, EarlyView.
Engineering of the 148‐germline (148‐GL) antibody reveals a roadmap for overcoming SARS‐CoV‐2 viral escape. By introducing four specific somatic hypermutations, the resulting 148‐M4 variant restores potent neutralization against Omicron BA.1 and BA.4/5.
Huibin Lv, Ziqi Feng, Qi Wen Teo, Chunke Chen, Akshita B. Gopal, Danbi Choi, Timothy J. C. Tan, Yun Sang Tang, Lewis Siu, Armita Nourmohammad, Roberto Bruzzone, Ian A. Wilson, Meng Yuan, Nicholas C. Wu, Chris K. P. Mok   +14 more
wiley   +1 more source

Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma

Frontiers in Oncology
Giant cell glioblastoma often exhibits genome instability and is frequently associated with mutations in genes involved in DNA repair pathways including TP53 and DNA mismatch repair genes.
Yongfeng Bi, Dong Wan, Dong Wan, Si Chen, Si Chen, Huafei Chen, Huafei Chen, Lingchuan Guo, Lingchuan Guo, Xiaoshun He, Rong Rong, Jinyuan Xiao, Wei Gao, Sheng Xiao   +13 more
doaj   +1 more source

Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B

Case Reports in Endocrinology, 2015
Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73.
Marianne S. Elston, Goswin Y. Meyer-Rochow, Michael Dray, Michael Swarbrick, John V. Conaglen   +4 more
doaj   +1 more source

Lifting the veil on germline DDX41 mutations [PDF]

Blood, 2019
In this issue of Blood, Sebert et al made the intriguing observation that cases with germline DEAD-box helicase 41 (DDX41) mutations represent a unique entity among adult myeloid neoplasms (MNs), often with distinct clinical and molecular features.
openaire   +2 more sources